Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Table 3 Genotype – phenotype correlations in ADCL

Missense	F/M individuals	Mean age	FH	IH	FG	ARD	BAV	VA	Emphys	transmission
Exon 30	5/7	21.9	50	64	100	82	10	70	40	100
Exon 32	6/6	17.1	90	17	100	50	0	25	0	95
Exon 33	2/2	21	33	50	100	50	25	50	100	100
Exon 34	3/5	49.5	100	75	100	38	0	25	50	91
Chr rearr	3/0	42	100	67	100	?	0	0	100	56
Total	19/20	27.3	63	50	100	57	5	38	35	83

Frequencies (%) of the clinical characteristics are given for mutations in the different exons. Chr rear, Chromosomal rearrangement as described by [7]. Mean age in years. F, female; M, male; FH, family history; IH, Inguinal hernia; FG, Facial gestalt; ARD, aortic root dilatation; BAV, bicuspid aortic valve; VA, other valve anomalies; Emphys, emphysema. References: [3–8].

ISSN: 1750-1172